ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.553+20C>T

gnomAD frequency: 0.00002  dbSNP: rs542955531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126759 SCV000170272 benign not specified 2013-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055676 SCV002363548 benign Neuronal ceroid lipofuscinosis 7 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483252 SCV002800639 likely benign Neuronal ceroid lipofuscinosis 7; Macular dystrophy with central cone involvement 2022-03-03 criteria provided, single submitter clinical testing

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